+ Site Statistics
+ Search Articles
+ Subscribe to Site Feeds
Most Shared
PDF Full Text
+ PDF Full Text
Request PDF Full Text
+ Follow Us
Follow on Facebook
Follow on Twitter
Follow on LinkedIn
+ Translate
+ Recently Requested

Expression of the tuberous sclerosis complex gene products, hamartin and tuberin, in central nervous system tissues

Expression of the tuberous sclerosis complex gene products, hamartin and tuberin, in central nervous system tissues

Acta Neuropathologica 99(3): 223-230

Tuberous sclerosis complex (TSC) is a common genetic disorder in which affected individuals can develop mental retardation, developmental brain defects, and seizures. Two genetic loci are responsible for TSC: TSC1 on chromosome 9q and TSC2 on chromosome 16p. Here, we report our analysis of TSC1 (hamartin) and TSC2 (tuberin) protein expression in the central nervous system (CNS). Both tuberin and hamartin are expressed in neurons and astrocytes where they physically interact. In the mouse cerebellum in vivo, tuberin predominantly localizes to the perinuclear region of the Purkinje cell, whereas hamartin is distributed along neuronal or astrocytic processes. In contrast, both hamartin and tuberin demonstrate similar neuronal expression patterns in pure neuronal cultures in vitro. Additionally, hamartin is highly expressed in astrocytes in mixed neuron-glia cultures in vitro, suggesting that hamartin may be important for astrocyte growth control. Unlike tuberin, loss of hamartin expression was not observed in sporadic astrocytomas. These results suggest that tuberin and hamartin may differentially contribute to the CNS pathology in TSC.

(PDF emailed within 0-6 h: $19.90)

Accession: 010644558

Download citation: RISBibTeXText

PMID: 10663963

DOI: 10.1007/pl00007431

Related references

Tuberous Sclerosis Complex gene products, Tuberin and Hamartin, control mTOR signaling by acting as a GTPase-activating protein complex toward Rheb. Current Biology 13(15): 1259-1268, August 5, 2003

Expression of the tuberous sclerosis 2 gene product, tuberin, in adult and developing nervous system tissues. Neurobiology of Disease 3(2): 111-120, 1996

Multicompartmental distribution of the tuberous sclerosis gene products, hamartin and tuberin. Archives of Biochemistry & Biophysics 404(2): 210-217, August 15, 2002

Loss of expression of tuberin and hamartin in tuberous sclerosis complex-associated but not in sporadic angiofibromas. Journal of Cutaneous Pathology 30(3): 174-177, 2003

The tuberous sclerosis gene products hamartin and tuberin are multifunctional proteins with a wide spectrum of interacting partners. Mutation Research 658(3): 234-246, 2008

Multi-compartmental distribution of the tuberous sclerosis gene products, hamartin and tuberin A potential role in caveolae trafficking. Proceedings of the American Association for Cancer Research Annual Meeting 42: 397, 2001

Expression of tuberin and hamartin in tuberous sclerosis complex-associated and sporadic cortical dysplasia of Taylor's balloon cell type. Folia Neuropathologica 46(1): 43-48, 2008

Tuberin and hamartin expression is reduced in the majority of subependymal giant cell astrocytomas in tuberous sclerosis complex consistent with a two-hit model of pathogenesis. Journal of Child Neurology 19(2): 102-106, 2004

Tuberous sclerosis complex: Hamartin and tuberin expression in renal cysts and its discordant expression in renal neoplasms. Pathology, Research and Practice 212(11): 972-979, 2016

Developmental expression of the tuberous sclerosis proteins tuberin and hamartin. Acta Neuropathologica 101(3): 202-210, 2001

Reduction of expression of tuberin, the tuberous-sclerosis-complex-gene-2 product in tuberous sclerosis complex associated connective tissue nevi and sporadic squamous and basal cell carcinomas. Journal of Cutaneous Pathology 29(5): 287-290, 2002

Interaction between hamartin and tuberin, the protein products of the TSC1 and TSC2 genes mutated in Tuberous Sclerosis. European Journal of Human Genetics 6(SUPPL 1): 116, 1998

Tuberous sclerosis: immunohistochemistry expression of tuberin and hamartin in a 31-week gestational fetus. Fetal and Pediatric Pathology 23(4): 241-249, 2005

Tuberous Sclerosis: Immunohistochemistry Expression Of Tuberin And Hamartin In A 31-Week Gestational Fetus. Fetal & Pediatric Pathology 23(4): 241-249, 2004

The tuberous sclerosis-1 (TSC1) gene product hamartin suppresses cell growth and augments the expression of the TSC2 product tuberin by inhibiting its ubiquitination. Oncogene 19(54): 6306-6316, 2000